The Aicardi-Goutieres syndrome: Variable clinical expression in two siblings

Aad Verrips; Johan A.P. Hiel; Fons J.M. Gabreëls; Pieter Wesseling; Jan J. Rotteveel

doi:10.1016/S0887-8994(97)00028-3

The Aicardi-Goutieres syndrome: Variable clinical expression in two siblings

Aad Verrips
, Johan A.P. Hiel
, Fons J.M. Gabreëls
, Pieter Wesseling
, Jan J. Rotteveel

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

Abstract

We report 2 siblings with the Aicardi-Goutieres syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits. To our knowledge, such a striking difference in clinical expression has not been reported previously.

Original language	English
Pages (from-to)	323-325
Number of pages	3
Journal	Pediatric Neurology
Volume	16
Issue number	4
DOIs	https://doi.org/10.1016/S0887-8994(97)00028-3
Publication status	Published - May 1997
Externally published	Yes

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title = "The Aicardi-Goutieres syndrome: Variable clinical expression in two siblings",

abstract = "We report 2 siblings with the Aicardi-Goutieres syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits. To our knowledge, such a striking difference in clinical expression has not been reported previously.",

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AU - Verrips, Aad

AU - Hiel, Johan A.P.

AU - Gabreëls, Fons J.M.

AU - Wesseling, Pieter

AU - Rotteveel, Jan J.

PY - 1997/5

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AB - We report 2 siblings with the Aicardi-Goutieres syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits. To our knowledge, such a striking difference in clinical expression has not been reported previously.

UR - https://www.scopus.com/pages/publications/0030611282

U2 - 10.1016/S0887-8994(97)00028-3

DO - 10.1016/S0887-8994(97)00028-3

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VL - 16

SP - 323

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JO - Pediatric Neurology

JF - Pediatric Neurology

IS - 4

ER -

The Aicardi-Goutieres syndrome: Variable clinical expression in two siblings

Abstract

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